Mutation screening of the Homer gene family and association analysis in schizophrenia

Homer proteins are a group of proteins that regulate group 1 metabotropic glutamate receptor function. As altered glutamate function has been implicated in many neuro psychiatric disorders, particularly schizophrenia, we have screened all three known Homer genes for sequence variation for use under...

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Bibliographic Details
Published in:American journal of medical genetics 2003-07, Vol.120B (1), p.18-21
Main Authors: Norton, N., Williams, H.J., Williams, N.M., Spurlock, G., Zammit, S., Jones, G., Jones, S., Owen, R., O'Donovan, M.C., Owen, M.J.
Format: Article
Language:English
Subjects:
Adult
Adult and adolescent clinical studies
association
Biological and medical sciences
Carrier Proteins - genetics
Case-Control Studies
DNA Mutational Analysis
Female
Gene Frequency
Genetic Testing
Genotype
glutamate
Homer
Homer Scaffolding Proteins
Humans
Ireland
Male
Medical sciences
Middle Aged
Multigene Family - genetics
Neuropeptides - genetics
Polymorphism, Single Nucleotide
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Psychoses
Schizophrenia
Schizophrenia - diagnosis
Schizophrenia - genetics
United Kingdom
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Summary:Homer proteins are a group of proteins that regulate group 1 metabotropic glutamate receptor function. As altered glutamate function has been implicated in many neuro psychiatric disorders, particularly schizophrenia, we have screened all three known Homer genes for sequence variation for use under the candidate gene association paradigm. We found seven SNPs, including three in exons. Of these, none was non‐synonymous. Allele frequencies of all the detected SNPs were estimated in DNA pools of 368 schizophrenics and 368 controls. Only one (Homer 1 IVS4 + 18A > G) was associated with schizophrenia in this sample, a finding confirmed by individual genotyping (P = 0.01). However, in our extended sample of 680 cases and 671 controls, the evidence for association diminished (P = 0.05). Our results suggest it is unlikely that sequence variants in the Homer genes contribute to the aetiology of schizophrenia, but the variants we identified are plausible candidates for other neuropsychiatric phenotypes. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4841
0148-7299
1552-485X
1096-8628
DOI:10.1002/ajmg.b.20032